Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia

Sayed Abdulazeez,Deem N Alkuroud,Hatoon Ahmed Al Taifi,J Francis Borgio,Vinoth Raman,Noor B Almandil,Abdulrahman Alghamdi,Sumayh A Aldakeel,Aurelio Maggio,Quds Abdulhakeem Alqattan,Neda Z Ghanem,B Rabindran Jermy,Nourah H Al Qahtani,Ameen Alturki,Halah Egal Aljofi,Antonino Giambona,Amani M Al-Amodi,Norah Fahad Alhur

doi:10.1038/s41598-019-53655-8

Sayed Abdulazeez, Deem N Alkuroud + Show 16 more

Open Access

https://doi.org/10.1038/s41598-019-53655-8

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Abstract

The prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. There were records on the practices of Saudis toward prenatal diagnosis (PND) and termination of pregnancy (TOP), however the sample sizes are small. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. The cross-sectional survey was conducted among Saudis (n = 2761) to determine their practices toward reproductive-decision making. Regression analysis was conducted to identify the association of the limiting factors, relative merits and family history on the outcomes. Total of 2507 participants returned completed questionnaire. The practice towards PND (68%) were more favorable than TOP (33%). PND was found to be a good opportunity for early diagnosis and gives parent’s choice. Education, history with affected baby, prior knowledge and religious belief were significant deciding factors of PND and TOP. Down syndrome (n = 161) and sickle cell anemia (n = 152) were commonly available genetic disorder among participant’s family. Respondents with autistic cases in their family have higher acceptance rate for TOP. Non-consanguineous are more willing to consider TOP than consanguineous. Participants with abnormal fetus, aged of > 36 years, married and educated Saudis were more likely consider TOP. Though, religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently. Awareness campaigns about PND and TOP may increase the chances of accepting prenatal genetic diagnosis.

Highlights

The prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia
BD represents the highest percentage as a disease sub-group, Down syndrome (n = 161) was the most commonly reported disorder followed by sickle cell anemia (n = 152) (Fig. 1)
The current study examined the practice of the cross section of the Saudi Arabian community regarding prenatal diagnosis (PND) and termination of pregnancy (TOP) for genetic disorders, in addition to investigating the factors that contribute to their practices

Summary

Introduction

The prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. *email: www.nature.com/scientificreports making strategized decisions for prevention[1].Studies found that general knowledge of genetics in Arab countries lacks understanding the fundamental characteristics of genetic diseases[2] This is a major concern in Eastern countries, which have high prevalence of inherited genetic diseases, primarily due to the high occurrence of consanguineous marriages[3,4]. The understanding and the practice of patients toward genetic testing would mainly influence their medical decisions[5] For this reason, several studies have been conducted in Saudi Arabia in an effort to investigate the attitudes of specific groups in the community towards Prenatal Diagnosis (PND) and Termination of Pregnancy (TOP) for certain or hypothetical genetic disease(s) that the fetus could have[6]. The main objective of the study is to determine the practices toward PND and TOP

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